Hernandez, Nicholas; Bucciol, Giorgia; Moens, Leen; Le Pen, Jeremie; Shahrooei, Mohammad; Goudouris, Ekaterini; Shirkani, Afshin; Changi-Ashtiani, Majid; Rokni-Zadeh, Hassan; Sayar, Esra Hazar; Reisli, Ismail; Lefevre-Utile, Alain; Zijlmans, Dick; Jurado, Andrea; Pholien, Ruben; Drutman, Scott; Belkaya, Serkan; Cobat, Aurelie; Boudewijns, Robbert; Jochmans, Dirk; Neyts, Johan; Seeleuthner, Yoann; Lorenzo-Diaz, Lazaro; Enemchukwu, Chibuzo; Tietjen, Ian; Hoffmann, Hans-Heinrich; Momenilandi, Mana; Poyhonen, Laura; Siqueira, Marilda M.; Barbosa de Lima, Sheila M.; de Souza Matos, Denise C.; Homma, Akira; Maia, Maria de Lourdes S.; da Costa Barros, Tamiris Azamor; Nunes de Oliveira, Patricia Mouta; Mesquita, Emersom Ciclini; Gijsbers, Rik; Zhang, Shen-Ying; Seligman, Stephen J.; Abel, Laurent; Hertzog, Paul; Marr, Nico; Martins, Reinaldo de Menezes; Meyts, Isabelle; Zhang, Qian; MacDonald, Margaret R.; Rice, Charles M.; Casanova, Jean-Laurent; Jouanguy, Emmanuelle; Bossuyt, Xavier

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

常见TYK2错义变体纯合的人的结核病和IL-23-dependent ifn-γ 免疫力受损

SCIENCE IMMUNOLOGY

IF16.3

2018-12-14156

OAAI

Boisson-Dupuis, Stephanie; Ramirez-Alejo, Noe; Li, Zhi; Patin, Etienne; Rao, Geetha; Kerner, Gaspard; Lim, Che Kang; Krementsov, Dimitry N.; Hernandez, Nicholas; Ma, Cindy S.; Zhang, Qian; Markle, Janet; Martinez-Barricarte, Ruben; Payne, Kathryn; Fisch, Robert; Deswarte, Caroline; Halpern, Joshua; Bouaziz, Matthieu; Mulwa, Jeanette; Sivanesan, Durga; Lazarov, Tomi; Naves, Rodrigo; Garcia, Patricia; Itan, Yuval; Boisson, Bertrand; Checchi, Alix; Jabot-Hanin, Fabienne; Cobat, Aurelie; Guennoun, Andrea; Jackson, Carolyn C.; Pekcan, Sevgi; Caliskaner, Zafer; Inostroza, Jaime; Costa-Carvalho, Beatriz Tavares; Tavares de Albuquerque, Jose Antonio; Garcia-Ortiz, Humberto; Orozco, Lorena; Ozcelik, Tayfun; Abid, Ahmed; Rhorfi, Ismail Abderahmani; Souhi, Hicham; Amrani, Hicham Naji; Zegmout, Adil; Geissmann, Frederic; Michnick, Stephen W.; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Puel, Anne; Ciancanelli, Michael J.; Marr, Nico; Abolhassani, Hassan; Elvira Balcells, Maria; Condino-Neto, Antonio; Strickler, Alexis; Abarca, Katia; Teuscher, Cory; Ochs, Hans D.; Reisli, Ismail; Sayar, Esra H.; El-Baghdadi, Jamila; Bustamante, Jacinta; Hammarstrom, Lennart; Tangye, Stuart G.; Pellegrini, Sandra; Quintana-Murci, Lluis; Abel, Laurent; Casanova, Jean-Laurent

共济失调毛细血管扩张症和Artemis缺乏症中的I型IFN相关NETosis

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IF11.2

2018-07-0147

OAAI

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

DCLRE1C (ARTEMIS) 突变导致的表型从非典型的严重联合免疫缺陷到单纯的抗体缺陷

HUMAN MOLECULAR GENETICS

IF3.2

2015-10-1673

OAAI

Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells?